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Down Syndrome Causes Of

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Goodpasture's syndrome is a rare disease. It is mostly affect the lungs and kidneys. In Goodpasture's syndrome, the immune system makes antibodies that attack the lungs and kidneys. It was first described by Ernest Goodpasture in 1919, and subsequently his name was given to the disease.



Causes

Goodpasture's Syndrome is an autoimmune disorder. In this case, antibodies form against a certain type of protein called collagen. The collagen is present in the alveoli (tiny air sacs in the lungs) and in the glomeruli (the filtering units of the kidney). These antibodies are called anti-glomerular basement membrane antibodies (or anti-GBM antibodies).

The antibody attack leads to bleeding in the air sacs, which causes shortness of breath, cough, and bloody sputum. It also causes inflammation in the glomeruli of the kidney, which causes blood in urine (hematuria), protein in the urine (proteinuria), or kidney failure.

Symptoms

Symptoms can quickly become severe: Breathing can fail, and large amounts of blood can be lost. At the same time, the kidneys can rapidly fail. There may be small amounts of blood in the urine. Another common symptoms are :-

Chills and fever

Nausea and vomiting

Weight loss

Chest pain

Anemia

Massive pulmonary haemorrhage can cause respiratory failure.

There is a rapidly progressive glomerulonephritis that may lead to acute renal failure and volume overload

Arthralgia.

High blood pressure (hypertension)

Less frequent urination than usual

Signs vary over time and range from clear lungs on auscultation to crackles and rhonchi. Some patients have peripheral edema and pallor from anemia.

Treatment

The main goal is to remove the circulating antibodies from the blood. An early diagnosis is very important. The patient's outlook is much worse if the kidneys are already severely damaged when treatment begins. Hospitalization is required for diagnosis and treatment of many forms of acute nephritic syndrome. The cause must be identified and treated.

Anti-inflammatory and cytotoxic agents (such as prednisone or cyclophosphamide) may be needed. If kidney failure becomes severe, dialysis may be needed to substitute for the kidney's normal functioning. Kidney transplantation may be performed in patients who suffer irreversible loss of kidney function. The nephrologist (a specialist physician) would usually wait for the levels of circulating anti-GBM antibodies to drop before proceeding with the transplant.
Down Syndrome Causes Of
Rett syndrome is not a degenerative disorder, but rather is a neurodevelopmental disorder. Rett syndrome affects one in every 10,000 to 15,000 live female births. It occurs in all racial and ethnic groups worldwide. Parents later reflected on how it was nearly impossible to comfort them during their episodes. As many as 75% of all girls with RS had been previously diagnosed with the Autism Spectrum Disorder. Adult women with Rett syndrome show many individual differences in the severity of their disability.All women with Rett syndrome are incapable of living independently and require constant care throughout their lives. Innovative and flexible living arrangements such as group homes are becoming the norm in many cases. There are several treatments options available treat for rett-sydrome. Occupational therapy , physiotherapy, and hydrotherapy may prolong mobility. Medication may be needed for breathing irregularities and motor difficulties, and antiepileptic drugs may be used to control seizures. Some children may require special equipment and aids such as braces to arrest scoliosis, splints to modify hand movements, and nutritional programs to help them maintain adequate weight. Special academic, social, vocational, and support services may also be required in some cases.

Causes of Retts Syndrome

Common Causes and Risk factors of Retts Syndrome

Spontaneous mutation of the X chromosome.

Gne MECP2.

Signs and Symptoms of Retts Syndrome

Common Sign and Symptoms of Retts Syndrome

Language and growth retardation

Slow head growth.

Seizures.

Bone fractures.

Agitation.

Constipation.

Abnormal Breathing.

Hyperventillation.

Treatment of Retts Syndrome

Common Treatment of Retts Syndrome

Drugs may help control some of the symptoms associated with the disorder - such as epileptic seizures.

Orthopedic surgery may be needed for severe cases of scoliosis.

In some cases, physical therapy can help maintain walking skills, and occupational therapy may improve purposeful use of the hands.

Some children may require special equipment and aids such as braces to arrest scoliosis, splints to modify hand movements, and nutritional programs to help them maintain adequate weight.

Therapy has also included administration of levodopa (L-dopa), a precursor of dopamine, or medications that mimic the effects of dopamine (dopamine agonists).

Physical therapy may help to improve balance and the ability to walk, maintain flexibility, and strengthen muscles

Regular monitoring for scoliosis is important to ensure prompt detection and early.
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